Other mutations in Pkd1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00340:Pkd1
|
APN |
17 |
24,799,069 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00503:Pkd1
|
APN |
17 |
24,784,401 (GRCm39) |
missense |
probably benign |
|
IGL00549:Pkd1
|
APN |
17 |
24,791,735 (GRCm39) |
missense |
probably benign |
|
IGL00573:Pkd1
|
APN |
17 |
24,813,504 (GRCm39) |
nonsense |
probably null |
|
IGL00924:Pkd1
|
APN |
17 |
24,790,601 (GRCm39) |
nonsense |
probably null |
|
IGL01319:Pkd1
|
APN |
17 |
24,806,893 (GRCm39) |
unclassified |
probably benign |
|
IGL01326:Pkd1
|
APN |
17 |
24,795,148 (GRCm39) |
nonsense |
probably null |
|
IGL01457:Pkd1
|
APN |
17 |
24,813,795 (GRCm39) |
splice site |
probably null |
|
IGL01541:Pkd1
|
APN |
17 |
24,805,272 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01575:Pkd1
|
APN |
17 |
24,792,102 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01606:Pkd1
|
APN |
17 |
24,795,497 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL01642:Pkd1
|
APN |
17 |
24,800,266 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01888:Pkd1
|
APN |
17 |
24,804,789 (GRCm39) |
missense |
possibly damaging |
0.91 |
IGL01940:Pkd1
|
APN |
17 |
24,798,720 (GRCm39) |
missense |
possibly damaging |
0.63 |
IGL01958:Pkd1
|
APN |
17 |
24,799,298 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02005:Pkd1
|
APN |
17 |
24,804,978 (GRCm39) |
missense |
possibly damaging |
0.67 |
IGL02121:Pkd1
|
APN |
17 |
24,794,901 (GRCm39) |
missense |
probably benign |
0.03 |
IGL02148:Pkd1
|
APN |
17 |
24,798,810 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02409:Pkd1
|
APN |
17 |
24,792,597 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02442:Pkd1
|
APN |
17 |
24,784,200 (GRCm39) |
missense |
probably benign |
0.41 |
IGL02498:Pkd1
|
APN |
17 |
24,804,753 (GRCm39) |
missense |
possibly damaging |
0.91 |
IGL02501:Pkd1
|
APN |
17 |
24,788,673 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02551:Pkd1
|
APN |
17 |
24,792,789 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02635:Pkd1
|
APN |
17 |
24,791,785 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02673:Pkd1
|
APN |
17 |
24,790,257 (GRCm39) |
missense |
probably benign |
0.40 |
IGL02808:Pkd1
|
APN |
17 |
24,812,478 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02816:Pkd1
|
APN |
17 |
24,813,489 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02863:Pkd1
|
APN |
17 |
24,788,726 (GRCm39) |
missense |
possibly damaging |
0.56 |
IGL02927:Pkd1
|
APN |
17 |
24,794,163 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02961:Pkd1
|
APN |
17 |
24,797,089 (GRCm39) |
missense |
possibly damaging |
0.81 |
IGL03003:Pkd1
|
APN |
17 |
24,812,577 (GRCm39) |
critical splice donor site |
probably null |
|
IGL03066:Pkd1
|
APN |
17 |
24,805,208 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03182:Pkd1
|
APN |
17 |
24,792,792 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL03384:Pkd1
|
APN |
17 |
24,784,871 (GRCm39) |
missense |
probably benign |
0.00 |
IGL03404:Pkd1
|
APN |
17 |
24,783,380 (GRCm39) |
missense |
probably damaging |
0.97 |
PIT1430001:Pkd1
|
UTSW |
17 |
24,788,485 (GRCm39) |
missense |
probably damaging |
0.99 |
PIT4494001:Pkd1
|
UTSW |
17 |
24,796,775 (GRCm39) |
missense |
probably damaging |
1.00 |
PIT4677001:Pkd1
|
UTSW |
17 |
24,793,003 (GRCm39) |
missense |
possibly damaging |
0.94 |
R0017:Pkd1
|
UTSW |
17 |
24,797,513 (GRCm39) |
critical splice donor site |
probably null |
|
R0022:Pkd1
|
UTSW |
17 |
24,813,793 (GRCm39) |
missense |
probably damaging |
0.98 |
R0022:Pkd1
|
UTSW |
17 |
24,813,793 (GRCm39) |
missense |
probably damaging |
0.98 |
R0058:Pkd1
|
UTSW |
17 |
24,783,677 (GRCm39) |
missense |
probably benign |
0.06 |
R0058:Pkd1
|
UTSW |
17 |
24,783,677 (GRCm39) |
missense |
probably benign |
0.06 |
R0085:Pkd1
|
UTSW |
17 |
24,805,197 (GRCm39) |
missense |
probably damaging |
0.98 |
R0094:Pkd1
|
UTSW |
17 |
24,800,250 (GRCm39) |
missense |
possibly damaging |
0.80 |
R0094:Pkd1
|
UTSW |
17 |
24,800,250 (GRCm39) |
missense |
possibly damaging |
0.80 |
R0135:Pkd1
|
UTSW |
17 |
24,784,045 (GRCm39) |
missense |
possibly damaging |
0.85 |
R0304:Pkd1
|
UTSW |
17 |
24,804,920 (GRCm39) |
missense |
probably damaging |
1.00 |
R0427:Pkd1
|
UTSW |
17 |
24,812,476 (GRCm39) |
missense |
probably damaging |
0.98 |
R0502:Pkd1
|
UTSW |
17 |
24,793,766 (GRCm39) |
missense |
probably damaging |
0.99 |
R0518:Pkd1
|
UTSW |
17 |
24,814,193 (GRCm39) |
missense |
probably benign |
0.01 |
R0521:Pkd1
|
UTSW |
17 |
24,814,193 (GRCm39) |
missense |
probably benign |
0.01 |
R0544:Pkd1
|
UTSW |
17 |
24,804,657 (GRCm39) |
missense |
probably damaging |
1.00 |
R0546:Pkd1
|
UTSW |
17 |
24,799,112 (GRCm39) |
missense |
probably benign |
0.44 |
R0626:Pkd1
|
UTSW |
17 |
24,794,549 (GRCm39) |
missense |
probably damaging |
0.96 |
R0648:Pkd1
|
UTSW |
17 |
24,813,911 (GRCm39) |
missense |
probably damaging |
1.00 |
R1138:Pkd1
|
UTSW |
17 |
24,805,006 (GRCm39) |
missense |
probably damaging |
1.00 |
R1302:Pkd1
|
UTSW |
17 |
24,787,210 (GRCm39) |
missense |
probably benign |
0.00 |
R1306:Pkd1
|
UTSW |
17 |
24,792,146 (GRCm39) |
missense |
probably damaging |
0.97 |
R1349:Pkd1
|
UTSW |
17 |
24,794,240 (GRCm39) |
missense |
probably damaging |
1.00 |
R1372:Pkd1
|
UTSW |
17 |
24,794,240 (GRCm39) |
missense |
probably damaging |
1.00 |
R1437:Pkd1
|
UTSW |
17 |
24,814,106 (GRCm39) |
missense |
probably damaging |
1.00 |
R1515:Pkd1
|
UTSW |
17 |
24,813,827 (GRCm39) |
missense |
probably benign |
0.01 |
R1605:Pkd1
|
UTSW |
17 |
24,796,500 (GRCm39) |
missense |
possibly damaging |
0.95 |
R1622:Pkd1
|
UTSW |
17 |
24,800,614 (GRCm39) |
missense |
probably benign |
|
R1623:Pkd1
|
UTSW |
17 |
24,797,243 (GRCm39) |
missense |
probably damaging |
0.99 |
R1726:Pkd1
|
UTSW |
17 |
24,783,150 (GRCm39) |
missense |
probably damaging |
0.96 |
R1756:Pkd1
|
UTSW |
17 |
24,813,459 (GRCm39) |
missense |
probably damaging |
1.00 |
R1780:Pkd1
|
UTSW |
17 |
24,800,543 (GRCm39) |
missense |
probably benign |
|
R1785:Pkd1
|
UTSW |
17 |
24,810,073 (GRCm39) |
missense |
probably benign |
0.00 |
R1829:Pkd1
|
UTSW |
17 |
24,784,558 (GRCm39) |
missense |
probably benign |
|
R1869:Pkd1
|
UTSW |
17 |
24,813,905 (GRCm39) |
missense |
probably damaging |
1.00 |
R1920:Pkd1
|
UTSW |
17 |
24,814,131 (GRCm39) |
missense |
probably damaging |
0.99 |
R1922:Pkd1
|
UTSW |
17 |
24,814,131 (GRCm39) |
missense |
probably damaging |
0.99 |
R1987:Pkd1
|
UTSW |
17 |
24,795,566 (GRCm39) |
splice site |
probably null |
|
R1988:Pkd1
|
UTSW |
17 |
24,795,566 (GRCm39) |
splice site |
probably null |
|
R1998:Pkd1
|
UTSW |
17 |
24,791,988 (GRCm39) |
missense |
probably damaging |
1.00 |
R2007:Pkd1
|
UTSW |
17 |
24,798,759 (GRCm39) |
missense |
probably damaging |
1.00 |
R2019:Pkd1
|
UTSW |
17 |
24,787,658 (GRCm39) |
nonsense |
probably null |
|
R2054:Pkd1
|
UTSW |
17 |
24,793,770 (GRCm39) |
missense |
probably benign |
0.00 |
R2061:Pkd1
|
UTSW |
17 |
24,788,888 (GRCm39) |
missense |
possibly damaging |
0.89 |
R2196:Pkd1
|
UTSW |
17 |
24,799,046 (GRCm39) |
missense |
possibly damaging |
0.60 |
R2203:Pkd1
|
UTSW |
17 |
24,799,863 (GRCm39) |
missense |
probably benign |
0.01 |
R2301:Pkd1
|
UTSW |
17 |
24,793,586 (GRCm39) |
missense |
probably benign |
|
R2655:Pkd1
|
UTSW |
17 |
24,795,464 (GRCm39) |
missense |
probably damaging |
0.99 |
R2860:Pkd1
|
UTSW |
17 |
24,784,420 (GRCm39) |
missense |
probably benign |
0.43 |
R2861:Pkd1
|
UTSW |
17 |
24,784,420 (GRCm39) |
missense |
probably benign |
0.43 |
R3000:Pkd1
|
UTSW |
17 |
24,813,460 (GRCm39) |
missense |
probably damaging |
1.00 |
R3150:Pkd1
|
UTSW |
17 |
24,798,765 (GRCm39) |
missense |
probably benign |
0.00 |
R3747:Pkd1
|
UTSW |
17 |
24,810,435 (GRCm39) |
missense |
possibly damaging |
0.67 |
R3812:Pkd1
|
UTSW |
17 |
24,784,615 (GRCm39) |
missense |
probably benign |
0.00 |
R3859:Pkd1
|
UTSW |
17 |
24,797,066 (GRCm39) |
splice site |
probably benign |
|
R3893:Pkd1
|
UTSW |
17 |
24,791,084 (GRCm39) |
critical splice donor site |
probably null |
|
R3947:Pkd1
|
UTSW |
17 |
24,797,011 (GRCm39) |
splice site |
probably benign |
|
R3949:Pkd1
|
UTSW |
17 |
24,797,011 (GRCm39) |
splice site |
probably benign |
|
R4176:Pkd1
|
UTSW |
17 |
24,806,971 (GRCm39) |
missense |
probably benign |
0.17 |
R4199:Pkd1
|
UTSW |
17 |
24,789,004 (GRCm39) |
missense |
probably benign |
0.41 |
R4225:Pkd1
|
UTSW |
17 |
24,812,497 (GRCm39) |
missense |
possibly damaging |
0.50 |
R4439:Pkd1
|
UTSW |
17 |
24,804,666 (GRCm39) |
missense |
probably damaging |
1.00 |
R4476:Pkd1
|
UTSW |
17 |
24,795,500 (GRCm39) |
missense |
probably damaging |
1.00 |
R4716:Pkd1
|
UTSW |
17 |
24,795,107 (GRCm39) |
missense |
probably damaging |
1.00 |
R4801:Pkd1
|
UTSW |
17 |
24,797,070 (GRCm39) |
missense |
probably damaging |
1.00 |
R4802:Pkd1
|
UTSW |
17 |
24,797,070 (GRCm39) |
missense |
probably damaging |
1.00 |
R4817:Pkd1
|
UTSW |
17 |
24,784,348 (GRCm39) |
splice site |
probably null |
|
R4903:Pkd1
|
UTSW |
17 |
24,790,976 (GRCm39) |
missense |
probably benign |
0.30 |
R4910:Pkd1
|
UTSW |
17 |
24,791,661 (GRCm39) |
missense |
probably damaging |
1.00 |
R4964:Pkd1
|
UTSW |
17 |
24,805,042 (GRCm39) |
critical splice donor site |
probably null |
|
R4966:Pkd1
|
UTSW |
17 |
24,805,042 (GRCm39) |
critical splice donor site |
probably null |
|
R5040:Pkd1
|
UTSW |
17 |
24,790,234 (GRCm39) |
missense |
probably benign |
0.02 |
R5042:Pkd1
|
UTSW |
17 |
24,788,861 (GRCm39) |
missense |
probably benign |
0.00 |
R5088:Pkd1
|
UTSW |
17 |
24,809,812 (GRCm39) |
missense |
possibly damaging |
0.94 |
R5121:Pkd1
|
UTSW |
17 |
24,792,437 (GRCm39) |
missense |
probably benign |
|
R5296:Pkd1
|
UTSW |
17 |
24,795,048 (GRCm39) |
missense |
probably damaging |
1.00 |
R5338:Pkd1
|
UTSW |
17 |
24,813,510 (GRCm39) |
missense |
probably benign |
|
R5356:Pkd1
|
UTSW |
17 |
24,812,551 (GRCm39) |
missense |
probably damaging |
0.97 |
R5357:Pkd1
|
UTSW |
17 |
24,784,764 (GRCm39) |
missense |
probably damaging |
1.00 |
R5363:Pkd1
|
UTSW |
17 |
24,784,047 (GRCm39) |
missense |
probably benign |
|
R5383:Pkd1
|
UTSW |
17 |
24,793,349 (GRCm39) |
missense |
probably benign |
|
R5622:Pkd1
|
UTSW |
17 |
24,793,014 (GRCm39) |
missense |
possibly damaging |
0.67 |
R5651:Pkd1
|
UTSW |
17 |
24,810,361 (GRCm39) |
missense |
possibly damaging |
0.88 |
R5664:Pkd1
|
UTSW |
17 |
24,788,345 (GRCm39) |
missense |
probably damaging |
0.99 |
R5723:Pkd1
|
UTSW |
17 |
24,784,497 (GRCm39) |
missense |
probably benign |
0.01 |
R5797:Pkd1
|
UTSW |
17 |
24,811,615 (GRCm39) |
missense |
possibly damaging |
0.55 |
R5838:Pkd1
|
UTSW |
17 |
24,799,186 (GRCm39) |
missense |
possibly damaging |
0.75 |
R5866:Pkd1
|
UTSW |
17 |
24,799,935 (GRCm39) |
missense |
probably damaging |
0.99 |
R5873:Pkd1
|
UTSW |
17 |
24,788,804 (GRCm39) |
missense |
probably benign |
|
R5906:Pkd1
|
UTSW |
17 |
24,791,894 (GRCm39) |
missense |
probably benign |
0.16 |
R6047:Pkd1
|
UTSW |
17 |
24,814,059 (GRCm39) |
missense |
probably damaging |
1.00 |
R6076:Pkd1
|
UTSW |
17 |
24,800,004 (GRCm39) |
missense |
probably benign |
0.14 |
R6151:Pkd1
|
UTSW |
17 |
24,794,580 (GRCm39) |
missense |
probably benign |
0.00 |
R6252:Pkd1
|
UTSW |
17 |
24,800,200 (GRCm39) |
missense |
probably damaging |
0.98 |
R6341:Pkd1
|
UTSW |
17 |
24,799,201 (GRCm39) |
missense |
probably damaging |
1.00 |
R6540:Pkd1
|
UTSW |
17 |
24,794,951 (GRCm39) |
missense |
probably damaging |
1.00 |
R6732:Pkd1
|
UTSW |
17 |
24,788,387 (GRCm39) |
missense |
probably damaging |
1.00 |
R6836:Pkd1
|
UTSW |
17 |
24,800,233 (GRCm39) |
missense |
probably damaging |
1.00 |
R6856:Pkd1
|
UTSW |
17 |
24,792,467 (GRCm39) |
missense |
probably benign |
0.05 |
R6865:Pkd1
|
UTSW |
17 |
24,795,461 (GRCm39) |
missense |
probably benign |
0.43 |
R6999:Pkd1
|
UTSW |
17 |
24,797,475 (GRCm39) |
missense |
possibly damaging |
0.62 |
R7077:Pkd1
|
UTSW |
17 |
24,810,093 (GRCm39) |
missense |
probably damaging |
1.00 |
R7123:Pkd1
|
UTSW |
17 |
24,813,742 (GRCm39) |
missense |
possibly damaging |
0.89 |
R7134:Pkd1
|
UTSW |
17 |
24,813,086 (GRCm39) |
missense |
probably damaging |
0.99 |
R7210:Pkd1
|
UTSW |
17 |
24,794,840 (GRCm39) |
missense |
probably damaging |
0.98 |
R7323:Pkd1
|
UTSW |
17 |
24,794,025 (GRCm39) |
missense |
probably benign |
0.01 |
R7380:Pkd1
|
UTSW |
17 |
24,800,616 (GRCm39) |
missense |
probably damaging |
1.00 |
R7407:Pkd1
|
UTSW |
17 |
24,813,568 (GRCm39) |
missense |
probably damaging |
1.00 |
R7410:Pkd1
|
UTSW |
17 |
24,794,855 (GRCm39) |
missense |
probably damaging |
1.00 |
R7492:Pkd1
|
UTSW |
17 |
24,788,715 (GRCm39) |
missense |
probably benign |
0.04 |
R7517:Pkd1
|
UTSW |
17 |
24,799,393 (GRCm39) |
missense |
probably damaging |
1.00 |
R7543:Pkd1
|
UTSW |
17 |
24,814,227 (GRCm39) |
missense |
probably damaging |
0.99 |
R7560:Pkd1
|
UTSW |
17 |
24,792,605 (GRCm39) |
missense |
probably benign |
0.33 |
R7615:Pkd1
|
UTSW |
17 |
24,812,476 (GRCm39) |
missense |
probably damaging |
0.98 |
R7714:Pkd1
|
UTSW |
17 |
24,769,250 (GRCm39) |
missense |
unknown |
|
R7718:Pkd1
|
UTSW |
17 |
24,805,474 (GRCm39) |
missense |
probably benign |
0.15 |
R7731:Pkd1
|
UTSW |
17 |
24,792,872 (GRCm39) |
missense |
probably damaging |
1.00 |
R7849:Pkd1
|
UTSW |
17 |
24,805,174 (GRCm39) |
missense |
probably damaging |
0.98 |
R7859:Pkd1
|
UTSW |
17 |
24,790,254 (GRCm39) |
missense |
probably damaging |
1.00 |
R7866:Pkd1
|
UTSW |
17 |
24,809,881 (GRCm39) |
missense |
probably benign |
0.26 |
R7915:Pkd1
|
UTSW |
17 |
24,811,630 (GRCm39) |
nonsense |
probably null |
|
R7991:Pkd1
|
UTSW |
17 |
24,791,595 (GRCm39) |
missense |
possibly damaging |
0.95 |
R8050:Pkd1
|
UTSW |
17 |
24,784,617 (GRCm39) |
missense |
probably benign |
0.26 |
R8086:Pkd1
|
UTSW |
17 |
24,800,188 (GRCm39) |
missense |
probably damaging |
1.00 |
R8312:Pkd1
|
UTSW |
17 |
24,786,102 (GRCm39) |
missense |
probably benign |
0.02 |
R8385:Pkd1
|
UTSW |
17 |
24,794,702 (GRCm39) |
missense |
possibly damaging |
0.67 |
R8393:Pkd1
|
UTSW |
17 |
24,791,621 (GRCm39) |
missense |
probably damaging |
0.99 |
R8552:Pkd1
|
UTSW |
17 |
24,810,443 (GRCm39) |
missense |
probably damaging |
1.00 |
R8753:Pkd1
|
UTSW |
17 |
24,793,176 (GRCm39) |
missense |
probably damaging |
1.00 |
R8822:Pkd1
|
UTSW |
17 |
24,784,615 (GRCm39) |
missense |
probably benign |
0.00 |
R8855:Pkd1
|
UTSW |
17 |
24,792,051 (GRCm39) |
missense |
probably damaging |
1.00 |
R8866:Pkd1
|
UTSW |
17 |
24,792,051 (GRCm39) |
missense |
probably damaging |
1.00 |
R8867:Pkd1
|
UTSW |
17 |
24,792,807 (GRCm39) |
missense |
probably damaging |
1.00 |
R8960:Pkd1
|
UTSW |
17 |
24,795,176 (GRCm39) |
missense |
probably damaging |
1.00 |
R8966:Pkd1
|
UTSW |
17 |
24,794,751 (GRCm39) |
missense |
possibly damaging |
0.69 |
R9004:Pkd1
|
UTSW |
17 |
24,799,421 (GRCm39) |
missense |
probably benign |
|
R9015:Pkd1
|
UTSW |
17 |
24,784,636 (GRCm39) |
nonsense |
probably null |
|
R9069:Pkd1
|
UTSW |
17 |
24,791,988 (GRCm39) |
missense |
probably damaging |
1.00 |
R9092:Pkd1
|
UTSW |
17 |
24,788,347 (GRCm39) |
missense |
possibly damaging |
0.93 |
R9135:Pkd1
|
UTSW |
17 |
24,790,976 (GRCm39) |
missense |
|
|
R9307:Pkd1
|
UTSW |
17 |
24,769,451 (GRCm39) |
missense |
possibly damaging |
0.90 |
R9312:Pkd1
|
UTSW |
17 |
24,797,364 (GRCm39) |
missense |
probably damaging |
1.00 |
R9313:Pkd1
|
UTSW |
17 |
24,813,932 (GRCm39) |
missense |
probably damaging |
1.00 |
R9380:Pkd1
|
UTSW |
17 |
24,769,262 (GRCm39) |
missense |
unknown |
|
R9383:Pkd1
|
UTSW |
17 |
24,794,900 (GRCm39) |
missense |
probably damaging |
1.00 |
R9531:Pkd1
|
UTSW |
17 |
24,792,114 (GRCm39) |
missense |
probably damaging |
0.99 |
R9617:Pkd1
|
UTSW |
17 |
24,800,341 (GRCm39) |
missense |
probably damaging |
1.00 |
R9691:Pkd1
|
UTSW |
17 |
24,796,812 (GRCm39) |
missense |
possibly damaging |
0.77 |
R9792:Pkd1
|
UTSW |
17 |
24,800,172 (GRCm39) |
missense |
probably benign |
|
R9793:Pkd1
|
UTSW |
17 |
24,800,172 (GRCm39) |
missense |
probably benign |
|
X0024:Pkd1
|
UTSW |
17 |
24,810,366 (GRCm39) |
missense |
possibly damaging |
0.68 |
X0061:Pkd1
|
UTSW |
17 |
24,813,905 (GRCm39) |
missense |
probably damaging |
1.00 |
X0065:Pkd1
|
UTSW |
17 |
24,805,138 (GRCm39) |
missense |
probably benign |
0.19 |
Z1088:Pkd1
|
UTSW |
17 |
24,784,579 (GRCm39) |
missense |
probably benign |
0.44 |
Z1177:Pkd1
|
UTSW |
17 |
24,794,465 (GRCm39) |
missense |
probably benign |
|
|
Background |
Mutations in PKD1 are linked to adult type I polycystic kidney disease [OMIM: # 173900; (2)], a condition marked by renal cysts, loss of glomerular filtration, end-stage renal disease, liver cysts, hypertension, and intracranial aneurysm.
Please see MGI:97603 for more details about the mouse models listed below.
Pkd1tm1.2Bol/tm1.2Bol; MGI:3846085
Not Specified
Homozygotes are embryonic lethal (3).
Pkd1tm1.2Djmp/tm1.2Djmp; MGI:3771608
involves: 129P2/OlaHsd * FVB/N
Homozygotes are embryonic lethal (4).
Pkd1tm1Ggg/tm1Ggg; MGI:3612339
either: (involves: 129/Sv) or (involves: 129/Sv * Black Swiss)
Homozygotes exhibit polyhydramnios by E12.5 (5).
Pkd1tm1Ggg/tm1Ggg; MGI:3612339
involves: 129/Sv * Black Swiss
Homozygotes are embryonic lethal and exhibit edema, polyhydramnios, and hemorrhage (6).
Pkd1tm1Ggg/tm1Ggg; MGI:3612339
involves: 129S4/SvJae * C57BL/6
Homozygotes in this genetic background rarely survive beyond E15.5 and exhibit placental abnormalities around E11.5 (7).
Pkd1tm1Ggg/tm1Ggg; MGI:3612339
Not Specified
In this genetic background, homozygous mutant embryos begin to die after embryonic day (E) 14.5 (8). They develop edema by E13.5, pancreatic cysts by E15.5 and kidney cysts by E16.5 (8). Heterozygous adults develop cysts of the kidneys (~20-30%) and the liver (~10%) late in life.
Pkd1tm1Jzh/tm1Jzh; MGI:1857562
either: (involves: 129S4/SvJae * C57BL/6) or (involves: 129S4/SvJae * BALB/c)
Homozygotes exhibit perinatal lethality, dilation of pancreatic ducts, pancreas cysts, normal hearts, skin edema, pulmonary hypoplasia, dilated proximal convoluted tubules, and kindey cysts (9-11)
Pkd1tm1Maa/tm1Maa; MGI:2183523
involves: 129S4/SvJae * C57BL/6
Homozygotes exhibit complete embryonic lethality between E14.5-E15.5 due to vascular leaks and massive hemorrhage (12). The also exhibit subcutaneous edema as well as kidney and pancreas cysts (12).
Pkd1tm1Shh/tm1Shh; MGI:2183431
involves: 129P2/OlaHsd
Homozygotes exhibit embryonic lethality, kidney cysts, and skin edema (13).
Pkd1tm1Som/tm1Som; MGI:3793793
involves: 129/Sv * C57BL/6 * SJL
Homozygotes exhibit complete neonatal lethality, but most die by E16.5 (14). These mice also have kidney and pancreas cysts, hemorrhage, and edema (14).
|