Phenotypes associated with this allele

• Allele Symbol: Khdrbs1^tm1Rchd
• Allele Name: targeted mutation 1, Stephane Richard
• Allele ID: MGI:3692384
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Khdrbs1^tm1Rchd/Khdrbs1^tm1Rchd	involves: 129S1/Sv * 129X1/SvJ	MGI:5568968
hm2	Khdrbs1^tm1Rchd/Khdrbs1^tm1Rchd	involves: 129S1/Sv * 129X1/SvJ * C57BL/6	MGI:3696370
cx3	Khdrbs1^tm1Rchd/Khdrbs1^tm1Rchd Khdrbs2^tm1.1Schei/Khdrbs2^tm1.1Schei	involves: 129S1/Sv * 129S6/SvEvTac * 129X1/SvJ * BALB/cJ	MGI:5568966

Genotype
MGI:5568968

hm1

• Allelic Composition: Khdrbs1^tm1Rchd/Khdrbs1^tm1Rchd
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

nervous system

reduced cerebellar foliation ( J:208331 )

• depth of fissure separating lobules VIb and VII is reduced

Genotype
MGI:3696370

hm2

• Allelic Composition: Khdrbs1^tm1Rchd/Khdrbs1^tm1Rchd
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

Histological analysis of undecalcified bone from wild type and Khdrbs1^tm1Rchd/Khdrbs1^tm1Rchd mice

mortality/aging

perinatal lethality, incomplete penetrance ( J:115775 )

• about 2/3 die at birth of unknown causes, however those that survive, live to old age

cellular

abnormal osteoblast physiology ( J:115775 )

• osteoblast activity is enhanced in cultures of bone marrow stromal cells

• however, osteoclast activity does not appear altered in bone marrow stromal cells

immune system

abnormal bone marrow development ( J:115775 )

• aged mutants do not develop fatty bone marrow as is seen in wild-type

growth/size/body

decreased body weight ( J:115775 )

• 4-month old homozygotes weigh less than wild-type

reproductive system

male infertility ( J:115775 )

♂

behavior/neurological

abnormal maternal nurturing ( J:115775 )

♀ • females rarely provide adequate care for young

skeleton

increased bone mineral density ( J:115775 )

• bone mineral density remains constant or decreases in wild-type mice as they age but increases significantly in the total body and in the femoral and vertebral regions

increased bone mineral density of vertebrae ( J:115775 )

increased bone mineral density of femur ( J:115775 )

increased bone mass ( J:115775 )

• bone mass is preserved in aged mice (12 months of age) compared to wild-type in which bone mass is decreased up to 75%

abnormal skeleton physiology ( J:115775 )

abnormal bone remodeling ( J:115775 )

• bone remodeling is preserved in aged mutants compared to the loss of remodeling seen in wild-type

abnormal osteoblast physiology ( J:115775 )

• osteoblast activity is enhanced in cultures of bone marrow stromal cells

• however, osteoclast activity does not appear altered in bone marrow stromal cells

adipose tissue

abnormal adipose tissue physiology ( J:115775 )

• isolated MEFs are impaired in their ability to undergo adipocyte differentiation compared with wild-type MEFs

• aged mutants do not develop fatty bone marrow as is seen in wild-type

homeostasis/metabolism

decreased circulating leptin level ( J:115775 )

• 12-month old mutants have lower levels of leptin than age-matched wild-type or young homozygotes

• however, estrogen levels are no different from wild-type

neoplasm

neoplasm ( J:115775 )

N • mice do not develop tumors

Genotype
MGI:5568966

cx3

• Allelic Composition: Khdrbs1^tm1Rchd/Khdrbs1^tm1Rchd; Khdrbs2^tm1.1Schei/Khdrbs2^tm1.1Schei
• Genetic Background: involves: 129S1/Sv * 129S6/SvEvTac * 129X1/SvJ * BALB/cJ

reproductive system

infertility ( J:208331 )

nervous system

reduced cerebellar foliation ( J:208331 )

• loss of fissure separating lobules VIb and VII

decreased brain size ( J:208331 )

delaminated Purkinje cell layer ( J:208331 )

• disorganized layer within the fused region of lobules VIb and VII

small cerebellum ( J:208331 )

• reduced cerebellum weight